HSCR9
MCID: HRS024
MIFTS: 14

Hirschsprung Disease 9 (HSCR9)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hirschsprung Disease 9

MalaCards integrated aliases for Hirschsprung Disease 9:

Name: Hirschsprung Disease 9 58 30
Hirschsprung Disease, Susceptibility to, 9 58 13
Hscr9 58

Classifications:



External Ids:

OMIM 58 611644
MedGen 43 C1968840

Summaries for Hirschsprung Disease 9

OMIM : 58 The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623. (611644)

MalaCards based summary : Hirschsprung Disease 9, also known as hirschsprung disease, susceptibility to, 9, is related to hirschsprung disease 1. An important gene associated with Hirschsprung Disease 9 is HSCR9 (Hirschsprung Disease, Susceptibility To, 9). Affiliated tissues include colon.

Related Diseases for Hirschsprung Disease 9

Diseases in the Hirschsprung Disease 1 family:

Hirschsprung Disease 2 Hirschsprung Disease 5
Hirschsprung Disease 6 Hirschsprung Disease 7
Hirschsprung Disease 8 Hirschsprung Disease 9
Hirschsprung Disease 3 Hirschsprung Disease 4

Diseases related to Hirschsprung Disease 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hirschsprung disease 1 11.1

Symptoms & Phenotypes for Hirschsprung Disease 9

Clinical features from OMIM:

611644

Drugs & Therapeutics for Hirschsprung Disease 9

Search Clinical Trials , NIH Clinical Center for Hirschsprung Disease 9

Genetic Tests for Hirschsprung Disease 9

Genetic tests related to Hirschsprung Disease 9:

# Genetic test Affiliating Genes
1 Hirschsprung Disease 9 30

Anatomical Context for Hirschsprung Disease 9

MalaCards organs/tissues related to Hirschsprung Disease 9:

42
Colon

Publications for Hirschsprung Disease 9

Variations for Hirschsprung Disease 9

Expression for Hirschsprung Disease 9

Search GEO for disease gene expression data for Hirschsprung Disease 9.

Pathways for Hirschsprung Disease 9

GO Terms for Hirschsprung Disease 9

Sources for Hirschsprung Disease 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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